Canonical Allele Identifier: CA2681939612
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117106-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117109del , CM000669.2:g.19117109del GRCh38
NC_000007.13:g.19156732del , CM000669.1:g.19156732del GRCh37
NC_000007.12:g.19123257del NCBI36
NG_008114.1:g.5566del
NG_008114.2:g.5566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.215del MANE Select ENSP00000242261.5:p.Gly72AlafsTer?
ENST00000242261.5:c.215del ENSP00000242261.5:p.Gly72AlafsTer?
ENST00000354571.5:c.12del
NM_000474.3:c.215del NP_000465.1:p.Gly72AlafsTer?
XM_011515496.1:c.215del XP_011513798.1:p.Gly72AlafsTer?
NR_149001.1:n.566del
NM_000474.4:c.215del MANE Select NP_000465.1:p.Gly72AlafsTer?
NR_149001.2:n.530del
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